gene/point mutations Flashcards

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1
Q

what are the 3 types of mutations?

A
  • gene/point

- chromosome/ block

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2
Q

define gene/point mutations

A
  • localized changes in the base sequence of a DNA strand caused by a mutagen or an error during replication
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3
Q

what are the three types of mutations within gene mutations?

A

1) substitution
2) insertion
3) deletion

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4
Q

what is substitution in gene mutations?

A
one nucleotide is replaced by a different nucleotide resulting in:
- synonymous 
- missense
- nonsense 
= sickle cell disease
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5
Q

what is the insertion in gene mutations?

A

addition of one or more nucleotides base pairs into a DNA sequence
results in:
- frameshift

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6
Q

what is a deletion in gene mutations?

A

a nucleotide is removed from the DNA strand
= cystic fibrosis
results in:
- frameshift

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7
Q

define synonymous

A

more than one triplet can code for same amino acid = same amino acid + no effect on the protein produced

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8
Q

define missense

A

one base change = one amino acid difference in the protein produced

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9
Q

define nonsense

A

one base change = stop codon occurring prematurely = halts translation= incomplete protein that is likely to have no biological use

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10
Q

define frameshift

A

every following codon is affected as the frame of reference has moved = leading to translation halting and protein failing

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